PMC Links for Nucleotide (Select 1674985915) - PMC

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Items: 3

Select item 44893231.

Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia

Muslim M Alsaadi, A Mesut Erzurumluoglu, Santiago Rodriguez, Philip A I Guthrie, Tom R Gaunt, Hager Z Omar, Mohammad Mubarak, Khalid K Alharbi, Ammar C Al-Rikabi, Ian N M Day

Hum Mutat. 2014 Dec; 35(12): 1446–1448. Published online 2014 Sep 16. doi: 10.1002/humu.22698

PMCID:: PMC4489323

Abstract Article PDF–351K

Select item 41571462.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Rim Hjeij, Alexandros Onoufriadis, Christopher M. Watson, Christopher E. Slagle, Nikolai T. Klena, Gerard W. Dougherty, Małgorzata Kurkowiak, Niki T. Loges, Christine P. Diggle, Nicholas F.C. Morante, George C. Gabriel, Kristi L. Lemke, You Li, Petra Pennekamp, Tabea Menchen, Franziska Konert, June Kehlet Marthin, Dorus A. Mans, Stef J.F. Letteboer, Claudius Werner, Thomas Burgoyne, Cordula Westermann, Andrew Rutman, Ian M. Carr, Christopher O’Callaghan, Eduardo Moya, Eddie M.K. Chung, UK10K Consortium, Eamonn Sheridan, Kim G. Nielsen, Ronald Roepman, Kerstin Bartscherer, Rebecca D. Burdine, Cecilia W. Lo, Heymut Omran, Hannah M. Mitchison

Am J Hum Genet. 2014 Sep 4; 95(3): 257–274. doi: 10.1016/j.ajhg.2014.08.005